Akademisyen
HATİCE MUTLU
DOÇENT
ANKARA ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Çocuk Genetik Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.
- Makale 63
- Proje 0
- Kitap 0
- Bildiri 71
- Patent 0
- Sanatsal 0
Scopus (SJR)
Q1
7
Q2
13
Q3
14
Q4
5
WoS (JCR)
Q1
5
Q2
4
Q3
14
Q4
14
TR Index
13
makale
Alan+yıl+tür normalize OpenAlex yüzdelik — Clarivate ESI / SciVal değildir.
Üst %1 makale
1
Üst %10 makale
9
Ort. yüzdelik
55.0%
Üst %1 payı
1.8%
Üst %10 payı
16.4%
Makaleler
YÖKSİS ve OpenAlex kaynak ayrımıyla makaleler; quartile ve TR Index ile daraltabilirsiniz.
Makale listesi
- 2026 A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU YÖKSİS SJR Q2 JCR Q3 OpenAlex 89.3%
- 2026 Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients YÖKSİS SJR Q2 JCR Q3 OpenAlex üst %10 OpenAlex 90.3%
- 2025 Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis YÖKSİS TR Index SJR Q3 JCR Q3 OpenAlex 68.2%
- 2025 ‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors YÖKSİS SJR Q1 JCR Q2 OpenAlex 83.7%
- 2025 Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 91.9%
- 2025 Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report YÖKSİS SJR Q3 JCR Q3 OpenAlex 74.7%
- 2024 Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families YÖKSİS SJR Q2 JCR Q3 OpenAlex 56.7%
- 2023 Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 67.0%
- 2023 Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort YÖKSİS SJR Q3 JCR Q4 OpenAlex 62.4%
- 2023 Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 47.6%
- 2022 The Outcomes of an Individualized Physical Therapy Program in CALFAN Syndrome: A Case Report YÖKSİS SJR Q2 JCR Q3 OpenAlex 63.5%
- 2022 Effectiveness of functional trunk training on trunk control and upper limb functions in patients with autosomal recessive hereditary ataxia YÖKSİS SJR Q2 JCR Q2 OpenAlex 46.4%
- 2022 Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children with Mucopolysaccharidosis YÖKSİS OpenAlex 48.1%
- 2022 A Complication of a Frequent Procedure That is Uncommon but Can be Fatal: Activated Charcoal Aspiration YÖKSİS TR Index OpenAlex 30.5%
- 2021 From cataract to syndrome diagnosis: Revaluation of Warburg‐Micro syndrome Type 1 patients YÖKSİS SJR Q2 JCR Q3 OpenAlex 51.7%
- 2021 SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 97.2%
- 2021 Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB variant YÖKSİS SJR Q4 JCR Q4 OpenAlex 60.4%
- 2021 The Spectrum of NF1 Gene Variations in Southeastern Turkey YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 7.6%
- 2021 Administration of SCN1A genetic testing as a pre-prognostic indicator in early onset recurrent febrile seizures YÖKSİS TR Index OpenAlex 2.6%
- 2020 Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 92.2%